Mutagenetix > Incidental Mutation

Incidental Mutation 'R5601:Ces2e'

439025

Institutional Source

Beutler Lab

Gene Symbol

Ces2e

Ensembl Gene

ENSMUSG00000031886

Gene Name

carboxylesterase 2E

Synonyms

Ces5, 9030624L02Rik

MMRRC Submission

043153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105652892-105661304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105656126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 146 (I146F)

Ref Sequence

ENSEMBL: ENSMUSP00000105037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034355] [ENSMUST00000109410]

AlphaFold

Q8BK48

Predicted Effect

probably benign
Transcript: ENSMUST00000034355
AA Change: I146F

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: I146F

Domain	Start	End	E-Value	Type
Pfam:COesterase	11	538	1.2e-174	PFAM
Pfam:Abhydrolase_3	143	252	4.6e-11	PFAM
Pfam:Peptidase_S9	159	296	2.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109410
AA Change: I146F

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: I146F

Domain	Start	End	E-Value	Type
Pfam:COesterase	9	538	1.7e-171	PFAM
Pfam:Abhydrolase_3	143	246	6.6e-11	PFAM
Pfam:Peptidase_S9	158	276	2.1e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,931,029 (GRCm39)	V426I	probably benign	Het
Asmt	T	C	X: 169,110,127 (GRCm39)	V212A	probably damaging	Het
Atn1	A	G	6: 124,720,191 (GRCm39)		probably null	Het
Auts2	G	T	5: 131,505,662 (GRCm39)		probably benign	Het
AW551984	C	T	9: 39,502,563 (GRCm39)	V672M	possibly damaging	Het
Bltp3a	C	A	17: 28,103,468 (GRCm39)	A392D	probably damaging	Het
Ccdc13	G	A	9: 121,629,638 (GRCm39)	Q114*	probably null	Het
Cfap44	A	G	16: 44,280,549 (GRCm39)	K1443E	probably damaging	Het
Cma2	T	A	14: 56,211,246 (GRCm39)	H179Q	possibly damaging	Het
Cpsf2	G	T	12: 101,951,614 (GRCm39)		probably null	Het
Cwh43	A	G	5: 73,575,283 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dram1	A	G	10: 88,160,629 (GRCm39)	S231P	probably damaging	Het
Fbxw7	A	G	3: 84,883,515 (GRCm39)	D482G	probably damaging	Het
Fstl1	T	C	16: 37,647,161 (GRCm39)	I177T	probably benign	Het
Fut9	T	C	4: 25,620,299 (GRCm39)	T172A	probably benign	Het
Gm5134	G	A	10: 75,821,786 (GRCm39)	V207M	probably damaging	Het
Hccs	G	A	X: 168,096,597 (GRCm39)	R203C	probably damaging	Het
Hmgxb3	A	T	18: 61,270,694 (GRCm39)	F877I	probably damaging	Het
Ide	A	G	19: 37,292,379 (GRCm39)	V272A	unknown	Het
Impact	C	T	18: 13,109,064 (GRCm39)	T65I	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Muc17	A	G	5: 137,166,863 (GRCm39)	S309P	probably damaging	Het
Myf6	A	C	10: 107,330,475 (GRCm39)	S31A	probably damaging	Het
Or4n4b	C	A	14: 50,536,318 (GRCm39)	W149C	probably damaging	Het
Or8b35	C	G	9: 37,904,010 (GRCm39)	T74R	possibly damaging	Het
P4hb	T	A	11: 120,462,441 (GRCm39)	E88D	possibly damaging	Het
Pcdhb9	T	C	18: 37,535,259 (GRCm39)	C418R	probably damaging	Het
Pramel51	T	C	12: 88,142,817 (GRCm39)	D267G	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,728,987 (GRCm39)		probably null	Het
Prss58	A	T	6: 40,874,783 (GRCm39)	N19K	possibly damaging	Het
Ptprq	C	T	10: 107,444,291 (GRCm39)	A1438T	probably benign	Het
Rfx4	A	T	10: 84,634,442 (GRCm39)	T61S	probably damaging	Het
Sclt1	T	A	3: 41,685,354 (GRCm39)	N35Y	probably benign	Het
Sec24b	CTG	CTGGTG	3: 129,834,483 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,881,427 (GRCm39)	I188T	probably damaging	Het
Slc27a4	A	T	2: 29,695,672 (GRCm39)	Y69F	probably benign	Het
Slc3a1	T	C	17: 85,340,319 (GRCm39)	V247A	probably benign	Het
Slc4a2	C	T	5: 24,643,772 (GRCm39)	T854I	probably benign	Het
Stat5b	G	A	11: 100,674,001 (GRCm39)	T761M	probably damaging	Het
Stkld1	T	C	2: 26,842,717 (GRCm39)	L563P	probably damaging	Het
Tbc1d23	C	A	16: 57,018,672 (GRCm39)	C283F	probably benign	Het
Tcaf3	T	C	6: 42,564,462 (GRCm39)	N900S	possibly damaging	Het
Tkfc	T	C	19: 10,571,927 (GRCm39)	T370A	probably benign	Het
Tpr	T	C	1: 150,311,604 (GRCm39)	V1868A	possibly damaging	Het
Triobp	T	A	15: 78,857,833 (GRCm39)	W1145R	probably damaging	Het
Vmn2r82	T	G	10: 79,232,025 (GRCm39)	L675V	probably damaging	Het
Zfp423	T	C	8: 88,508,637 (GRCm39)	E444G	probably damaging	Het

Other mutations in Ces2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Ces2e	APN	8	105,656,197 (GRCm39)	missense	probably benign	0.42
IGL02045:Ces2e	APN	8	105,657,290 (GRCm39)	splice site	probably benign
IGL02656:Ces2e	APN	8	105,653,688 (GRCm39)	missense	possibly damaging	0.94
IGL02904:Ces2e	APN	8	105,657,970 (GRCm39)	missense	probably benign
IGL02972:Ces2e	APN	8	105,653,693 (GRCm39)	missense	probably damaging	1.00
IGL03244:Ces2e	APN	8	105,655,451 (GRCm39)	missense	probably benign	0.38
R0585:Ces2e	UTSW	8	105,656,453 (GRCm39)	missense	probably damaging	1.00
R0762:Ces2e	UTSW	8	105,656,496 (GRCm39)	missense	probably damaging	0.98
R1004:Ces2e	UTSW	8	105,656,370 (GRCm39)	missense	probably damaging	1.00
R1168:Ces2e	UTSW	8	105,653,646 (GRCm39)	missense	possibly damaging	0.49
R1731:Ces2e	UTSW	8	105,656,208 (GRCm39)	missense	probably damaging	1.00
R2134:Ces2e	UTSW	8	105,659,171 (GRCm39)	critical splice donor site	probably null
R3087:Ces2e	UTSW	8	105,657,347 (GRCm39)	missense	probably benign	0.18
R3693:Ces2e	UTSW	8	105,655,443 (GRCm39)	missense	probably damaging	1.00
R4622:Ces2e	UTSW	8	105,655,341 (GRCm39)	splice site	probably null
R4873:Ces2e	UTSW	8	105,653,817 (GRCm39)	missense	probably damaging	1.00
R4875:Ces2e	UTSW	8	105,653,817 (GRCm39)	missense	probably damaging	1.00
R4965:Ces2e	UTSW	8	105,660,330 (GRCm39)	missense	probably benign	0.09
R5365:Ces2e	UTSW	8	105,653,846 (GRCm39)	critical splice donor site	probably null
R5529:Ces2e	UTSW	8	105,656,543 (GRCm39)	missense	probably benign	0.00
R5968:Ces2e	UTSW	8	105,659,627 (GRCm39)	missense	probably damaging	1.00
R6128:Ces2e	UTSW	8	105,655,428 (GRCm39)	missense	probably benign	0.03
R7337:Ces2e	UTSW	8	105,657,688 (GRCm39)	splice site	probably null
R7363:Ces2e	UTSW	8	105,659,632 (GRCm39)	splice site	probably null
R7489:Ces2e	UTSW	8	105,656,412 (GRCm39)	missense	probably benign	0.26
R7548:Ces2e	UTSW	8	105,658,538 (GRCm39)	missense	probably benign
R8068:Ces2e	UTSW	8	105,659,629 (GRCm39)	critical splice donor site	probably null
R9426:Ces2e	UTSW	8	105,656,220 (GRCm39)	missense	probably damaging	1.00
Z1088:Ces2e	UTSW	8	105,659,030 (GRCm39)	critical splice acceptor site	probably null
Z1088:Ces2e	UTSW	8	105,657,979 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGCTTGGAAATATTCTGGTGAG -3'
(R):5'- TGGTCTCCAGTGCTGAGAAG -3'

Sequencing Primer
(F):5'- TCTGGTGAGATTAATTCCTCATCTG -3'
(R):5'- GGTCATGAATCAAAGGTCTGTCC -3'

Posted On

2016-10-26